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https://www.readbyqxmd.com/read/27906111/the-functional-significance-of-the-skeletal-muscle-clock-lessons-from-bmal1-knockout-models
#1
REVIEW
Stefano Schiaffino, Bert Blaauw, Kenneth A Dyar
The circadian oscillations of muscle genes are controlled either directly by the intrinsic muscle clock or by extrinsic factors, such as feeding, hormonal signals, or neural influences, which are in turn regulated by the central pacemaker, the suprachiasmatic nucleus of the hypothalamus. A unique feature of circadian rhythms in skeletal muscle is motor neuron-dependent contractile activity, which can affect the oscillation of a number of muscle genes independently of the muscle clock. The role of the intrinsic muscle clock has been investigated using different Bmal1 knockout (KO) models...
October 13, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#2
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27902768/human-lung-tissue-transcriptome-influence-of-sex-and-age
#3
Matteo Dugo, Chiara E Cotroneo, Emilie Lavoie-Charland, Matteo Incarbone, Luigi Santambrogio, Lorenzo Rosso, Maarten van den Berge, David Nickle, Peter D Paré, Yohan Bossé, Tommaso A Dragani, Francesca Colombo
BACKGROUND: Sex and age strongly influence the pathophysiology of human lungs, but scarce information is available about their effects on pulmonary gene expression. METHODS: We followed a discovery-validation strategy to identify sex- and age-related transcriptional differences in lung. RESULTS: We identified transcriptional profiles significantly associated with sex (215 genes; FDR < 0.05) and age at surgery (217 genes) in non-involved lung tissue resected from 284 lung adenocarcinoma patients...
2016: PloS One
https://www.readbyqxmd.com/read/27901480/timp-2-snps-rs7342880-and-rs4789936-are-linked-to-risk-of-knee-osteoarthritis-in-the-chinese-han-population
#4
Pengcheng Xu, Wen Guo, Tianbo Jin, Jihong Wang, Dongsheng Fan, Zengtao Hao, Shangfei Jing, Chao-Qian Han, Jieli Du, Dong Jiang, Shuzheng Wen, Jianzhong Wang
This study aimed to investigate whether functional polymorphisms in the tissue inhibitors of metalloproteinase-2 (TIMP-2) gene are associated with susceptibility to knee osteoarthritis (OA) in the Chinese Han population. Six TIMP-2 single nucleotide polymorphisms (SNPs) were assayed using MassARRAY in 300 patients clinically and radiographically diagnosed with knee OA and in 428 controls. Allelic and genotypic frequencies were compared between groups. Logistic regression adjusting for age and gender was used to estimate risk associations between specific genotypes and knee OA by computing odds ratios (ORs) and 95% confidence intervals (95% CIs)...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27900779/mosaic-nras-q61r-mutation-in-a-child-with-giant-congenital-melanocytic-naevus-epidermal-naevus-syndrome-and-hypophosphataemic-rickets
#5
R Ramesh, N Shaw, E K Miles, B Richard, I Colmenero, C Moss
The association of hypophosphataemic rickets with verrucous epidermal naevus (EN) and elevated fibroblast growth factor 23 levels is known as cutaneous-skeletal hypophosphataemia syndrome (CSHS), and can be caused by somatic activating mutations in RAS genes. We report a unique patient with CSHS associated with giant congenital melanocytic naevus (CMN), neurocutaneous melanosis and EN syndrome, manifesting as facial linear sebaceous naevus, developmental delay and ocular dermoids. An activating mutation Q61R in the NRAS gene was found in affected skin and ocular tissue but not blood, implying that the disparate manifestations are due to a multilineage activating mutation (mosaic RASopathy)...
November 30, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27899997/testin-tes-as-a-candidate-tumour-suppressor-and-prognostic-marker-in-human-astrocytoma
#6
Giedrius Steponaitis, Arunas Kazlauskas, Daina Skiriute, Indre Valiulyte, Kestutis Skauminas, Arimantas Tamasauskas, Paulina Vaitkiene
Astrocytomas are one of the most common brain tumours; however, the current methods used to characterize these tumours are inadequate. The establishment of molecular markers may identify variables required to improve tumour characterization and subtyping, and may aid to specify targets for improved treatment with essential prognostic value for patient survival. One such candidate is testin (TES), which was reported to have prognostic value for glioblastoma patients. However, the role of TES protein in gliomagenesis is currently unknown...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27899892/age-dependent-hepatic-udp-glucuronosyltransferase-gene-expression-and-activity-in-children
#7
Elizabeth Neumann, Huma Mehboob, Jacqueline Ramírez, Snezana Mirkov, Min Zhang, Wanqing Liu
UDP-glucuronosyltransferases (UGTs) are important phase II drug metabolism enzymes. The aim of this study was to explore the relationship between age and changes in mRNA expression and activity of major human hepatic UGTs, as well as to understand the potential regulatory mechanism underlying this relationship. Using previously generated data, we investigated age-dependent mRNA expression levels of 11 hepatic UGTs (UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A9, UGT2B4, UGT2B7, UGT2B10, UGT2B15, and UGT2B17) and 16 transcription factors (AHR, AR, CAR, ESR2, FXR, GCCR, HNF1a, HNF3a, HNF3b, HNF4a, PPARA, PPARG, PPARGC, PXR, SP1, and STAT3) in liver tissue of donors (n = 38) ranging from 0 to 25 years of age...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27898966/postweaning-changes-in-the-expression-of-chemerin-and-its-receptors-in-calves-are-associated-with-the-modification-of-glucose-metabolism
#8
Y Suzuki, S Haga, M Nakano, H Ishizaki, M Nakano, S Song, K Katoh, S Roh
Chemerin, originally known as a chemoattractant derived from adipose tissue and the liver, has been reported to have regulatory functions in gluconeogenesis, peripheral insulin sensitivity, and insulin secretion. This study was conducted to assess the postweaning changes in expression of this cytokine and its physiological role in the modification of glucose metabolism associated with weaning. Eighteen tissue samples were collected from Holstein calves (90 d of age; n = 4) to investigate the tissue distributions of chemerin and its receptors genes...
November 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898947/study-of-bovine-gene-the-temporal-spatial-expression-patterns-polymorphism-and-association-analysis-with-meat-production-traits
#9
E Juszczuk-Kubiak, K Bujko, M Grześ, M Cymer, K Wicińska, A Szostak, M Pierzchała
The gene () encodes a transcription factor belonging to the MEF2 family that plays an important role in myogenesis by transcriptional regulation of genes involved in skeletal muscle growth and development. Despite the established importance of the factors in the muscular growth and development, the temporal-spatial expression and biological function of have not been reported in cattle. The aim of this study was to analyze the level of expression in the developing longissimus dorsi muscle (LM) of 4 cattle breeds (Polish Holstein-Friesian [HF], Limousine [LIM], Hereford [HER], Polish Red [PR]), differing in terms of meat production and utility type, at 6, 9, and 12 mo of age...
November 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898863/rapid-communication-expression-of-an-endogenous-retroviral-element-during-early-gestation-in-beef-heifers
#10
K J McLean, M S Crouse, M R Crosswhite, D N Black, C R Dahlen, P P Borowicz, L P Reynolds, A K Ward, B W Neville, J S Caton
Endogenous retroviral gene elements have been implicated in development and formation of the feto-maternal interface. A variant of the syncytin endogenous retroviral envelope gene family, , was recently found in ruminants. We hypothesized that mRNA would be differentially expressed in utero-placental tissues and would fluctuate during key time points of early gestation in beef heifers. Commercial Angus crossbred heifers ( = 46; ∼15 mo of age; BW = 362.3 ± 34.7kg) housed in 6-animal pens were fed daily with native grass hay and supplemented with cracked corn to gain 0...
October 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898770/the-amaranth-genome-genome-transcriptome-and-physical-map-assembly
#11
J W Clouse, D Adhikary, J T Page, T Ramaraj, M K Deyholos, J A Udall, D J Fairbanks, E N Jellen, P J Maughan
Amaranth ( L.) is an emerging pseudocereal native to the New World that has garnered increased attention in recent years because of its nutritional quality, in particular its seed protein and more specifically its high levels of the essential amino acid lysine. It belongs to the Amaranthaceae family, is an ancient paleopolyploid that shows disomic inheritance (2 = 32), and has an estimated genome size of 466 Mb. Here we present a high-quality draft genome sequence of the grain amaranth. The genome assembly consisted of 377 Mb in 3518 scaffolds with an N of 371 kb...
March 2016: Plant Genome
https://www.readbyqxmd.com/read/27895782/expression-of-mmp9-serpine1-and-mir-134-as-prognostic-factors-in-esophageal-cancer
#12
Anna Agnieszka Klimczak-Bitner, Radzisław Kordek, Jan Bitner, Jacek Musiał, Janusz Szemraj
Esophageal cancer (EC) is a malignant tumor with a typically poor prognosis for patients. It is well known that certain microRNA (miRNA/miR) genes can regulate other genes responsible for carcinogenesis. In the present study, a group of these genes (miR-21, miR-134, miR-205 and miR-495) and genes connected with cancer-related pathways (MET, MMP9, PDGFA and SERPINE1) were chosen for analysis in order to find a potential correlation between their expression and the clinicopathological factors of EC. Esophageal tumors and adjacent non-cancerous tissue specimens were collected from a total of 63 patients and embedded in paraffin...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27895739/gene-expression-profiling-of-the-8q22-24-position-in-human-breast-cancer-tspyl5-mtdh-atad2-and-ccne2-genes-are-implicated-in-oncogenesis-while-wisp1-and-ext1-genes-may-predict-a-risk-of-metastasis
#13
Afsoon Taghavi, Mohammad Esmaeil Akbari, Mohammad Hashemi-Bahremani, Nahid Nafissi, Ahad Khalilnezhad, Seyed Mohammad Poorhosseini, Feyzollah Hashemi-Gorji, Vahid Reza Yassaee
Gene expression profiling has been suggested to predict breast cancer outcome. The prognostic value of the 8q22-24 position in breast cancer remains to be elucidated. The present study evaluated expression patterns of the genes located at this position in metastatic and non-metastatic breast cancer. A total of 85 patients with recurrent/metastatic (n=15) and non-metastatic (n=70) early-stage, estrogen receptor-positive and lymph node-negative breast tumors were included. In addition, 15 normal breast tissue samples were used as controls...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27892769/circrnas-in-the-brain
#14
Mor Hanan, Hermona Soreq, Sebastian Kadener
Circular RNAs (circRNAs) are highly abundant and evolutionarily conserved non-coding RNAs produced by circularization of specific exons. Since their re-discovery as potential regulators of gene expression, thousands of circRNAs were detected in different tissues and cell types across most organisms. Accumulating data suggest key roles for them in the central nervous system. Neuronal-expressed RNAs are diverted to yield highly enriched CircRNAs in human, mouse, pig and flies, with many of them enriched in neuronal tissues...
November 28, 2016: RNA Biology
https://www.readbyqxmd.com/read/27892595/the-rate-of-change-in-alcohol-misuse-across-adolescence-is-heritable
#15
Alexis C Edwards, Jon Heron, Vladimir Vladimirov, Aaron R Wolen, Daniel E Adkins, Fazil Aliev, Matthew Hickman, Kenneth S Kendler
BACKGROUND: Alcohol use typically begins during adolescence and escalates into young adulthood. This represents an important period for the establishment of alcohol use and misuse patterns, which can have psychosocial and medical consequences. Although changes in alcohol use during this time have been phenotypically characterized, their genetic nature is poorly understood. METHODS: Participants of the Avon Longitudinal Study of Parents and Children completed the Alcohol Use Disorders Identification Test (AUDIT) 4 times from age 16 to 20...
November 28, 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27892518/brain-microbiota-disruption-within-inflammatory-demyelinating-lesions-in-multiple-sclerosis
#16
W G Branton, J Q Lu, M G Surette, R A Holt, J Lind, J D Laman, C Power
Microbial communities reside in healthy tissues but are often disrupted during disease. Bacterial genomes and proteins are detected in brains from humans, nonhuman primates, rodents and other species in the absence of neurological disease. We investigated the composition and abundance of microbiota in frozen and fixed autopsied brain samples from patients with multiple sclerosis (MS) and age- and sex-matched nonMS patients as controls, using neuropathological, molecular and bioinformatics tools. 16s rRNA sequencing revealed Proteobacteria to be the dominant phylum with restricted diversity in cerebral white matter (WM) from MS compared to nonMS patients...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27890770/fibrosis-and-fibrotic-gene-expression-in-pediatric-and-adult-patients-with-idiopathic-dilated-cardiomyopathy
#17
Kathleen C Woulfe, Austine K Siomos, Hieu Nguyen, Megan SooHoo, Csaba Galambo, Brian L Stauffer, Carmen Sucharov, Shelley Miyamoto
BACKGROUND: While fibrosis seems to be prognostic for adverse outcomes in adults with idiopathic dilated cardiomyopathy (IDC), little is known about the prevalence and development of fibrosis in pediatric IDC hearts. We hypothesize there is less activation of fibrosis at a molecular level in pediatric IDC hearts than in the failing adult heart. METHODS AND RESULTS: Pediatric hearts were analyzed histologically to determine the prevalence of fibrosis. Left ventricular tissue from adult and pediatric IDC hearts and adult and pediatric non-failing (NF) hearts were subjected to qRT-PCR to study the expression of important mRNAs that affect fibrosis...
November 24, 2016: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/27890724/clinical-characteristics-and-antimicrobial-susceptibilities-of-anaerobic-bacteremia-in-an-acute-care-hospital
#18
Thean Yen Tan, Lily Siew Yong Ng, Lee Ling Kwang, Suma Rao, Li Ching Eng
: This study investigated the clinical features of anaerobic bacteraemia in an acute-care hospital, and evaluated the antimicrobial susceptibility of these isolates to commonly available antibiotics. MATERIALS & METHODS: Microbiological and epidemiological data from 2009-2011were extracted from the laboratory information system and electronic medical records. One hundred and eleven unique patient episodes consisting of 116 anaerobic isolates were selected for clinical review and antibiotic susceptibility testing...
November 24, 2016: Anaerobe
https://www.readbyqxmd.com/read/27890468/genetic-overlap-between-attention-deficit-hyperactivity-disorder-and-bipolar-disorder-evidence-from-genome-wide-association-study-meta-analysis
#19
Kimm J E van Hulzen, Claus J Scholz, Barbara Franke, Stephan Ripke, Marieke Klein, Andrew McQuillin, Edmund J Sonuga-Barke, John R Kelsoe, Mikael Landén, Ole A Andreassen, Klaus-Peter Lesch, Heike Weber, Stephen V Faraone, Alejandro Arias-Vasquez, Andreas Reif
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) and bipolar disorder (BPD) are frequently co-occurring and highly heritable mental health conditions. We hypothesized that BPD cases with an early age of onset (≤21 years old) would be particularly likely to show genetic covariation with ADHD. METHODS: Genome-wide association study data were available for 4609 individuals with ADHD, 9650 individuals with BPD (5167 thereof with early-onset BPD), and 21,363 typically developing controls...
October 18, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27890373/expression-and-mechanism-of-action-of-mir-196a-in-epithelial-ovarian-cancer
#20
Bo Yang, Sheng-Ze Li, Ling Ma, Hong-Li Liu, Jian Liu, Jun-Jun Shao
OBJECTIVE: To explore the expression, biological function and possible mechanism of action of microRNA molecular-196a (miR-196a) in epithelial ovarian cancer. METHODS: RT-PCR was used to detect the expression quantities of epithelial ovarian tissue, benign ovarian tissue, normal ovary epithelial tissue, ovarian cancer cell lines and miR-196a in normal ovarian epithelial cells to analyze the relationship between the expression of miR-196a and the clinical pathologic parameters of ovarian cancer...
November 2016: Asian Pacific Journal of Tropical Medicine
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